Non-cardiac atherosclerosis in patients with familial hypercholesterolemia

Among 64 patients with familial hypercholesterolemia (FHC) confirmed by tissue culture of skin fibroblasts (3 homozygotes, 9 heterozygotes) 12 (3 homozygotes, 9 heterozygotes) had signs of atherosclerosis of the carotid arteries and of the peripheral arteries (extracardiac vasculature). 8 heterozygotes as well as the three homozygotes had coronary atherosclerosis. Three of the 12 patients with carotid artery disease suffered from clinical symptoms of cerebrovascular insufficiency. Only five patients with heterozygous FHC had symptomatic peripheral artery disease though 10 including the three homozygotes had signs of atherosclerosis of the abdominal aorta and its peripheral branches. It is concluded that patients with FHC develop generalized atherosclerosis but not always symptoms of peripheral artery disease. Risk factors other than hypercholesterolemia do not seem to contribute essentially to the development of atherosclerosis. It seems important to evaluate patients with FHC regularly for atherosclerosis of the carotid arteries which might be recognized earlier than coronary atherosclerosis.